11-17393034-C-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 2P and 9B. PM1BP4_StrongBP6BS2
The NM_000352.6(ABCC8):c.4703G>A(p.Arg1568Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000369 in 1,614,160 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. R1568R) has been classified as Likely benign.
Frequency
Consequence
NM_000352.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCC8 | NM_000352.6 | c.4703G>A | p.Arg1568Gln | missense_variant | 39/39 | ENST00000389817.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC8 | ENST00000389817.8 | c.4703G>A | p.Arg1568Gln | missense_variant | 39/39 | 1 | NM_000352.6 | P4 |
Frequencies
GnomAD3 genomes AF: 0.000276 AC: 42AN: 152228Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.000764 AC: 192AN: 251384Hom.: 0 AF XY: 0.00102 AC XY: 138AN XY: 135886
GnomAD4 exome AF: 0.000380 AC: 555AN: 1461814Hom.: 7 Cov.: 32 AF XY: 0.000556 AC XY: 404AN XY: 727206
GnomAD4 genome AF: 0.000269 AC: 41AN: 152346Hom.: 2 Cov.: 33 AF XY: 0.000389 AC XY: 29AN XY: 74506
ClinVar
Submissions by phenotype
Maturity onset diabetes mellitus in young Uncertain:1
Uncertain significance, criteria provided, single submitter | research | Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic | - | Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs374743072 ) in MODY yet. - |
Transitory neonatal diabetes mellitus Uncertain:1
Uncertain significance, criteria provided, single submitter | research | Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic | - | Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs374743072 ) in neonatal diabetes yet. - |
Hereditary hyperinsulinism Benign:1
Likely benign, no assertion criteria provided | clinical testing | Natera, Inc. | Apr 10, 2020 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at